Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI.

INTRODUCTION: Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. METHODS: Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: D: -penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. RESULTS: MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. CONCLUSIONS: From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P.

Wilson's disease with myoclonus and white matter lesions.

White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical findings, the MRI showed also extensive WML in temporal, parietal and frontal regions, preserving interhemispheric fibers. Necropsy revealed marked alterations of white matter, cortex and basal ganglia. We subsequently review the literature concerning WML and myoclonus in Wilson's disease.

[Neuroimaging abnormalities in parkinsonism: study of five cases]. / Alterações de neuroimagem no parkinsonismo: estudo de cinco casos.

We report the brain magnetic resonance (MR) imaging abnormalities observed at the basal ganglia system of 5 patients (2 female and 3 male), who fulfilled the criteria of parkinsonism. The onset of parkinsonian syndrome ranged from 5 to 52 years old. All patients underwent MR exams with a 1.5T MR equipment. High field T2-weighted sequences disclosed hypersignal bilateral and symmetrically located exclusively at substantia nigra (3 cases), exclusively at globus pallidus (1case) and simultaneously at substantia nigra, globus pallidus and nigro-strital interconnections (1case). For three patients, the diagnose of secondary parkinsonism was supported by clinical data: the first had the onset of the symptoms after the exposure to an herbicide (glyphosate); the second after vaccination against measles; the third after coma due to encephalitis. For the other two patients, the onset of PS was progressive, resembling a typical idiopathic Parkinson's disease (PD) but the findings at the MR dimissed this initial diagnose. In this study, the contribution of neuroimaging was crucial to recognize secondary parkinsonism though the ethiological agents could not be determined in these patients.

[Diagnosis of schistosomiasis of the spinal cord: contribution of magnetic resonance imaging and electroneuromyography]. / Diagnóstico da esquistossomose medular: contribuição da ressonância magnética e eletroneuromiografia.

OBJECTIVE: To analyze the usefulness of magnetic resonance imaging MRI and electroneuromyography (ENMG) in the diagnosis of schistosomiasis of the spinal cord (SSC). METHOD: 18 MRI of the thoracolumbar spine and 24 ENMG of the upper and lower limbs were carried out on patients with a definite diagnosis of SSC in the clinical forms of myeloradiculitis or thoracic transverse myelitis. RESULTS: Of the 18 MRI carried out, 16 (88.8%) showed abnormalities on T1 and T2 weighted images and heterogenous pattern of enhancement with contrast material injection. Of the 24 ENMG, 23 (95.8%) showed a feature of bilateral multiradiculopathy of roots L2, L3, L4, L5, S1, S2, asymmetric in 10 cases (41.6%), characterized by signs of denervation in the lumbar paraspinal musculature and long duration polyphasic potentials in increased proportion, as well decrease of the recruitment of motor units. CONCLUSION: In spite of the non-specificity of both exams, the MRI and the ENMG showed to be useful for the diagnosis of SSC, by revealing abnormalities that repeated in 88.8% and 95.8% of the cases, respectively.

[The BCTRIMS Expanded Consensus on treatment of multiple sclerosis: I. The evidences for the use of immunosuppressive agents, plasma exchange and autologous hematopoietic stem cell transplantation]. / Consenso expandido do BCTRIMS para o tratamento da esclerose múltipla: I. As evidências para o uso de imunossupressores, plasmaférese e transplante autólogo de células tronco.

Since the sixties immunosuppressive agents have been used in the treatment of multiple sclerosis as there was cumulating evidence of the inflammatory nature of the disease. Cyclophosphamide, azathioprine and methotrexate have been the most frequently employed drugs whereas other agents such as cyclosporine and cladribine have been recently tested for RRMS. Mithoxantrone, on the other hand, was approved by the FDA for treatment of aggressive forms of the disease. Other immunointerventions such as plasma exchange and autologous hematopoietic stem cell transplantation have recently been employed in some special circumstances. This paper analyses the most important published data on the use of the immunosuppressive agents, plasma exchange and autologous hematopoietic stem cell transplantation according to the classes of evidences and types of recommendations of these drugs and immunointerventions. It provides sufficient information to support the guidelines expressed in the BCTRIMS Expanded Consensus on Treatment of MS.

[The BCTRIMS Expanded Consensus on treatment of multiple sclerosis: III. Evidence and recommendation-based guidelines]. / Consenso expandido do BCTRIMS para o tratamento da esclerose múltipla: III. Diretrizes baseadas em evidências e recomendações.

There has been unprecedented advances in knowledge of multiple sclerosis (MS) in the last few years. A new set of criteria for its diagnosis and a bunch of recent clinical trials with disease-modifying agents (DMA) have been published. All of that has made it necessary to update and expand the previous consensus for MS treatment as formulated by the Brazilian Committee for Treatment and Research in Multiple Sclerosis (BCTRIMS) two years ago. The BCTRIMS Expanded Consensus emphasizes the need to (1) consider MS treatment on an individual basis; (2) educate patients about the potential benefits and risks of treatment; (3) monitor drugs side effects; (4) have a signed Informed Consent Form; (5) consider the relative cost of the drug. The various clinical possibilities and the indications of the DMA and other immunointerventions are considered according to classes of evidences and types of recommendations. The BCTRIMS Expanded Consensus on Treatment of MS may turn out to be a model to other developing countries.

Ethnic differences in cerebral venous thrombosis.

BACKGROUND: Cerebral venous thromboses (CVT) with distinct clinical presentations have been shown worldwide. However, there is little information regarding race-ethnic differences in this disease. METHODS: We prospectively studied 50 CVT patients from Brazil, comparing clinical and laboratory data among white (W) and African-Brazilian (AB) patients. RESULTS: Seventy percent of the patients were female, 26 W and 23 AB, mean age 34.7 years. Multiple sinus CVT, deep CVT and worse outcome were significantly more frequent in AB than in W patients. There was a trend towards a higher frequency of factor V Leiden and prothrombin mutation in W than in AB, and of protein C deficiency in AB. CONCLUSIONS: CVT was more severe in AB patients than in W patients. Race-ethnic differences may account for the heterogeneous distribution of inherited thrombophilia in this series.

Neurological examination in obsessive-compulsive disorder

Recent studies suggest the occurrence of a neurological dysfunction in Obsessive-Compulsive Disorder (OCD). The purpose of the present study was to verify the clinical value of a neurological evaluation in patients with the disease. We submitted 15 patients with OCD (five of whom were under clomipramine) and 15 controls in a detailed neurological examination, including assessment of the neurological soft-signs. Eleven patients (73.3 percent) and four controls (26.7 percent) presented abnormalities on examination. The main findings among the patients were: palmomental reflex (six cases); mirror movements (five cases); agraphestesia and dysdiadochokinesia (three cases). Three out of the four patients who had a normal examination were on clomipramine. Palmomental reflex was the main finding among the controls. These results, although preliminary, stress the interest and usefulness of performing a detailed neurological examination in OCD.

Parkinsonismo precoce associado a lesöes palidais de tipo eye-of-the-tiger / Precocious Parkinson's disease associated to eye-of-the-tiger type pallidal lesions

Relata-se o caso de uma paciente com quadro parkinsoniano instalado aos 26 anos de idade, 30 anos de evoluçäo, boa reposta à levodopa e desenvolvimento precose de discinesias induzidas por essa droga. Essas características associadas à ausência de outras manifestaçöes neurológicas ao longo de todo o curso da moléstia sugeriam substrato anátomo-patológico superponível ao da forma clássica da doença de Parkinson. Entretanto, as imagens de ressonância magnética mostraram lesöes palidais do tipo "eye-of-the-tiger", semelhantes às observadas na doença de Hallervorden-Spatz. O presenta caso ilustra a heterogeneidade patológica dos casos de parkinsonismo de instalaçäo precoce e a possibilidade do encontro desse padräo de lesöes palidais em outras doenças degenerativas dos gânglios da base

Alterações de neuroimagem no parkinsonismo: estudo de cinco casos / Neuroimaging abnormalities in parkinsonism: study of five cases

Apresentamos 5 casos de parkinsonismo nos quais as imagens de ressonância magnética (RM) mostram alterações em estruturas do circuito dos núcleos da base (NB). Foram estudados 5 pacientes: 3 do sexo masculino e 2 do feminino nos quais as manifestações clínicas tiveram início nas faixas estárias de 5 a 52 anos. Os exames de RM foram realizados com equipamento de 1.5T. As imagens nas sequências em T2 evidenciaram hipersinal bilateral e simétrico nas seguintes topografias: exclusivamente na substância negra (3 casos), exclusivamente no globo pálido (1 caso) e envolvendo simultaneamente a substância negra, o globo pálido e as conexöes nigro-estriatais (1 caso). Em três casos havia dados sugestivos de parkinsonismo secundário: um pelo herbicida glifosato; outro após vacinaçäo anti-sarampo; outro após período de coma por encefalite. Nos dois casos restantes, o diagnóstico clínico era de doença de Parkinson (DP). Entretanto, nesses dois casos, os dados da RM permitiram excluir o diagnóstico inicial de DP. A RN foi fundamental para identificar casos de parkinsonismo secundário, embora em alguns destes pacientes näo tenha sido possível determinar os agentes etiológicos

Espasmo Hemifacial familiar: relato de dois casos / Familial hemifacial spasm: report of two cases

Os autores relatam os achados clínicos e angiográficos de dois casos de espasmo hemifacial familiar. Esta é a quinta descriçao sobre esse tema na literatura e apresenta mae e filha com idades de 76 e 51 anos respectivamente, nas quais o lado esquerdo foi o acometido. Exames de angiorressonância realizados nas pacientes revelaram dolicobasilar com origem lateralizada à esquerda para ambos os casos. Também demonstraram artéria cerebelar póstero-inferior muito desenvolvida e irregularidades murais nas artérias vertebrais sugestivas de arteriosclerose na mae e vasos intracranianos levemente alongados na filha. Dados de revisao da literatura e sobre a etiologia do espasmo hemifacial sao enfocados.

Diagnóstico da esquistossomose medular: contribuiçäo da ressonância magnética e eletroneuromiografia / Diagnosis of schistosomiasis of the spinal cord: contribution of magnetic resonance imaging and electroneuromyography

OBJETIVO: Analisar os resultados obtidos pela ressonância magnética (RM) e eletroneuromiografia (ENMG) em pacientes com diagnóstico de esquistossomose medular (EM). MÉTODO: Foram analisadas 18 RM da coluna vertebral tóraco-lombar e 24 ENMG dos membros superiores e inferiores de pacientes com diagnóstico definido ou altamente provável de EM nas suas formas clínicas mielorradiculítica e mielítica. RESULTADOS: Entre as 18 RM realizadas, 16 (88,8 por cento), mostraram alteraçöes caracterizadas por imagens hipointensas em aquisiçöes pesadas em T1, hiperintensas em T2, com captaçäo heterogênea do contraste gadolínico e/ou realce das meninges e cauda equina. Entre as 24 ENMG, 23 (95,8 por cento) mostraram quadro de multirradiculopatia bilateral das raízes nervosas L2, L3, L4, L5, S1, S2, assimétrico em 10 casos (41,6 por cento). CONCLUSÄO: A RM e a ENM demonstraram ser exames úteis para o diagnóstico da EM ao revelarem anormalidades que se repetiram sob um determinado padräo em 88,8 por cento e 95,8 por cento dos casos, respectivamente. Apesar de näo terem especificidade para a EM, estes procedimentos devem ser realizados rotineiramente com o objetivo de fortalecer o diagnóstico presuntivo desta doença

Consenso expandido do BCTRIMS para o tratamento da esclerose múltipla: I. As evidências para o uso de imunossupressores, plasmaférese e transplante autólogo de células tronco / The BCTRIMS Expanded Consensus on treatment of multiple sclerosis: I. The evidences for the use of immunossupressive agents, plasma exchange and autologous hematopoietic stem cell transplantation

O tratamento da esclerose múltipla (EM) com imunossupressores teve início na década de 60. As observaçöes laboratoriais e clínicas de que a doença tinha um caráter inflamatório induziu os clínicos a utilizarem medicamentos citostáticos e imunossupressores. Foram assim incorporados ao arsenal terapêutico da EM as drogas utilizadas em outras doenças inflamatórias sistêmicas como a artrite reumatóide e o lupus eritematoso sistêmico. As drogas imunossupressoras mais utilizadas säo a ciclofosfamida, azatioprina e o metotrexate. A ciclosporina e a cladribina foram utilizadas mais recentemente para o controle da EM na forma recorrente-remitente (RR). O mitoxantrone foi aprovado pelo FDA em 2000 para as formas mais agressivas, tanto RR, como secundariamente progressiva (SP) ou primariamente progressiva (PP). Outras formas de tratamento como plasmaférese e transplante autólogo de células tronco (TACT), foram inseridas neste arsenal terapêutico com suas características específicas e para casos especiais

Consenso expandido do BCTRIMS para o tratamento da esclerose múltipla: III. Diretrizes baseadas em evidências e recomendaçöes / The BCTRIMS Expanded Consensus on treatment of multiple sclerosis: III. Evidence and recommendation-based guidelines

Em razäo dos avanços no conhecimento da esclerose múltipla (EM), dos novos critérios diagnósticos e ensaios terapêuticos publicados, a atualizaçäo e expansäo das diretrizes para orientaçäo do neurologista brasileiro em relaçäo ao tratamento da EM se tornam necessárias. O Consenso Expandido do BCTRIMS enfatiza a individualizaçäo do tratamento a critério do neurologista, e a necessidade de informaçäo do paciente quanto aos potenciais benefícios e riscos das drogas, assim como do Consentimento Informado e compromisso de realizaçäo de controles periódicos. Na ausência de evidências científicas favorecendo uma determinada droga o médico deve considerar o custo diferencial dos imunomoduladores ao fazer sua opçäo terapêutica. As várias situaçöes clínicas e os diferentes agentes modificadores da doença, assim como as outras intervençöes terapêuticas de eficácia no tratamento säo consideradas à luz das classes de evidências científicas e dos tipos de recomendaçäo, aceitos pela comunidade científica internacional. O Consenso Expandido do BCTRIMS pode servir de modelo para outros países em desenvolvimento

Síndrome das raízes redundantes: apresentaçäo de caso e revisäo de literatura / Redundant nerve root syndrome: report of case and review of the literature

A síndrome de raízes redundantes caracteriza-se pelo alongamento, tortuosidade e eventual espessamento de uma ou mais raízes da cauda eqüina. O aspecto mioelográfico é característico, podendo haver bloqueio do canal raquiano lombar

Monitorizaçäo da pressäo intracraniana em cirurgia cardíaca / Intracranial pressure monitoring and open cardiac surgery

Os autores descrevem os resultados da medida da pressäo intracraniana em 5 doentes submetidos à cirurgia cardiaca, que apresentaram graves disfunçöes neurológicas durante o periodo pós-operatório e de um doente portador de Síndrome de Takayasu, que se submeteu à reconstruçäo das artérias carótidas empregando elevaçäo da pressäo intracraniana. Concluem que a medida da pressäo intracraniana deve ser utilizada como rotina após cirurgias cardíacas com potencialidade de causar transtornos neurológicos pós-operatórios, a fim de permitir melhor orientaçäo das medidas terapêuticas, uma vez que as medidas usuais empregadas para reduzir a pressäo intracraniana em casos de lesäo encefálica anóxico-isquêmicos nem sempre estäo indicadas